2009年6月25日 · The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and ...

2025年3月5日 · COL4A1/A2-related disorders are caused by changes (variants) in the COL4A1 or COL4A2 genes. These genes are the blueprints for two proteins that wind together like a long rope inside cells. When these ‘ropes’ are secreted, …

2024年12月24日 · COL4A1 (Collagen Type IV Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL4A1 include Retinal Arteries, Tortuosity Of and Brain Small Vessel Disease 1 With Or Without Ocular Anomalies .

Collagen alpha-1(IV) chain (COL4A1) is a protein that in humans is encoded by the COL4A1 gene on chromosome 13. [5] [6] It is ubiquitously expressed in many tissues and cell types. [7] COL4A1 is a subunit of the type IV collagen and plays a role in angiogenesis. [8]

The COL4A1 gene provides instructions for making one component of type IV collagen, which is a flexible protein important in the structure of many tissues throughout the body. Specifically, this gene makes the alpha1(IV) chain of type IV collagen.

iv型胶原蛋白α1 (col4a1)基因在胃癌中过表达。 COL4A1的突变会导致成人和儿童脑出血。 COL4A1和COL4A2突变可导致脑血管疾病。

COL4A1 mutations have been identified in adult patients with cerebral small vessel diseases. COL4A1 mutations are associated with schizencephaly and hemolytic anemia; genetic testing for COL4A1 should be considered for children with these conditions.

2016年7月7日 · Clinical characteristics: The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon ...

IV 型胶原α1 链： 该基因编码 IV 型胶原蛋白 α 蛋白。 IV 型胶原蛋白是基底膜的组成部分。该基因与相反链上的旁系同源基因共享一个双向启动子。该蛋白质由氨基末端 7S 结构域、三螺旋形成胶原结构域和羧基末端非胶原结构域组成。它作为异源三聚体的一部分发挥作用，并与其他细胞外基 …

胶原ivα1（col4a1）是一种在人体中广泛表达的蛋白质，属于胶原家族中的一员。 COL4a1主要存在于基底膜中，是基底膜的一个重要组成部分。 基底膜是一种重要的细胞外基质，在细胞生长、迁移、分化以及信号传导等过程中发挥着重要作用。